A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1790682



Internal ID17747790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145480142..145485104hg38UCSC Ensembl
Innerchr1:145983775..145988738hg19UCSC Ensembl
Innerchr1:144695132..144700095hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384963
hg194964
hg184964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946276
Supporting Variants
SamplesHGDP00521
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1790682
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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